A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510938



Internal ID15478432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74190609..74372858hg38UCSC Ensembl
Outerchr15:74482950..74665199hg19UCSC Ensembl
Outerchr15:72270003..72452252hg18UCSC Ensembl
Outerchr15:72270003..72452252hg17UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38182250
hg19182250
hg18182250
hg17182250
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622414
SamplesNA10860
Known GenesCCDC33, CYP11A1, LOC729739, STRA6
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv510938
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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